Baby with rare eye cancer diagnosed and receiving lifechanging treatment earlier after genomic sequencing at birth
A newborn baby whose rare form of eye cancer was detected at birth thanks to world-leading research is receiving vital early treatment by Birmingham Children’s Hospital medics.
Freddie Underhay was diagnosed with hereditary retinoblastoma which was picked up when a blood sample from his umbilical cord was tested for 200 rare diseases as part of the Generation Study.
Four weeks later it was confirmed that he had the disease and is now being treated at Birmingham Children’s Hospital.
Dr Joe Abbott, Freddie's ophthalmologist at the hospital, said: “The chances of protecting Freddie's eyesight have been greatly improved by finding out about his eye tumours earlier, thanks to the family participating in the Generation Study.”
Mum Vicky gave birth at Sheffield Teaching Hospital and consented to being part of the study led by Genomics England in partnership with NHS England. It is using whole genome sequencing to screen at total of 100,000 newborns and look for more than 200 rare genetic conditions.
The new mum said: “There were no signs that anything was wrong. He was a normal little baby, so the results came totally out of the blue. He had passed all his routine eye tests in hospital.
“When you sign up to research like this, you think it will never be you. But if we had thought ‘ignorance is bliss’ then the cancer would have spread down his optic nerve and into his body. We’re hopeful that this kind of testing will be readily available to any parent who wants it for their child in the future.”
Retinoblastoma is a rare and aggressive form of eye cancer usually diagnosed in very young children, with around 44 youngsters diagnosed every year in the UK. Early detection is crucial for preserving vision. However, when there is no known family history, diagnosis often comes later, once symptoms have progressed.
Since diagnosis, Freddie has undergone a mix of chemotherapy and laser treatment to treat the tumours in his eyes. Due to the nature of retinoblastoma and the genetic change involved, he will need ongoing treatment, monitoring, and specialist care for the foreseeable future, with regular eye screenings up until the age of 16.
Dad Joey added: “Our decision to join the Generation Study has changed Freddie’s life phenomenally. We were told that the first six months is vital in diagnosing and treating the condition. There’s no telling at what point it would have been discovered if we hadn’t taken part and what might have happened.
“The care that Freddie has received, and us as parents as well, has been second to none. We can’t thank everyone enough for all that they’re doing for Freddie.”
Completing the Generation Study is a key part of England’s 10 Year Health Plan. The findings will help inform the Government’s long-term ambition to offer genomic sequencing to all newborns as part of routine care - making it possible to detect and treat serious conditions early in life. This ambition will be subject to the important evidence and data the Generation Study gathers.
Birmingham Women’s Hospital is also a lead recruiter for the study and has seen more than 1,200 women consent to having the test, with over 1,000 samples taken. So far 20,000 participants have joined the study, available in 51 different hospitals, and more than 60 ‘condition suspected results’ have been returned by Genomics England to the NHS for confirmatory testing.
It is offering participating families whole genome sequencing for their baby using blood samples taken shortly after birth. Whole genome sequencing is a technique used to read all of someone’s DNA to understand their genetic makeup. The Generation Study is looking for more than 200 rare conditions which usually appear in the first few years of life, can be improved if caught early, and can be treated in the NHS.
The study, which launched in 2024 and will run until 2027, has already identified numerous conditions - allowing those babies to receive vital treatment at an earlier stage that can slow their condition’s progression or stop them from becoming ill. Around one per cent of babies in the study will be suspected to have a condition, which is then confirmed with follow-up testing in the NHS.
Dr Rich Scott, Chief Executive Officer of Genomics England, said: “We believe genomics can transform healthcare in this country and be used to get ahead of serious illness. It’s been incredibly moving to see the lifechanging impact the Generation Study is having for families like Freddie’s, who have been able to access treatment that makes a world of difference soon after being born.
“Every year thousands of babies are born in the UK with rare genetic conditions, but they can be hard to diagnose. On average, it takes around five years for a rare condition to be diagnosed, at which point it has often progressed to the point where treatment, if it exists, is far less effective.
“We’re fortunate that UK is uniquely placed to test and – if the evidence supports it – roll out genomic innovations that help us move towards preventing sickness, not just treating it. The Generation Study is an example of just that – a national-scale research study developing evidence to inform whether every baby should be offered genomic sequencing. It’s an important step towards a future of healthcare that is more preventative, with genomics playing a key role in that throughout someone’s life.”